Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Author:

Khaikin Yannay,Sidky Sarah,Abdenur Jose,Anastasi ArnaudORCID,Ballhausen Diana,Buoni Sabrina,Chan Alicia,Cheillan David,Dorison Nathalie,Goldenberg Alice,Goldstein Jennifer,Hofstede Floris C.,Jacquemont Marie-Line,Koeberl Dwight D.,Lion-Francois Laurence,Lund Allan Meldgaard,Mention Karine,Mundy Helen,O'Rourke Declan,Pitelet Gaele,Raspall-Chaure Miquel,Tassini Maria,Billette de Villemeur Thierry,Williams Monique,Salomons Gajja S.,Mercimek-Andrews Saadet

Funder

Rare Disease Foundation Microgrant Program

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference17 articles.

1. Creatine deficiency in the brain: a new, treatable inborn error of metabolism;Stöckler;Pediatr Res,1994

2. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man;Stöckler;Am J Hum Genet,1996

3. Creatine and creatinine metabolism;Wyss;Physiol Rev,2000

4. Mercimek-Mahmutoglu S, Salomons GS. 2009 [Updated 2015]. Creatine deficiency syndromes. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK3794/(accessed Apr 2016).

5. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis;Mercimek-Mahmutoglu;Neurology,2006

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